Difference in Stability of the N-domain Underlies Distinct Intracellular Properties of the E1064A and H1069Q Mutants of Copper-transporting ATPase ATP7B

Wilson disease (WD) is a disorder of copper metabolism caused by mutations in the Cu-transporting ATPase ATP7B. WD is characterized by significant phenotypic variability, the molecular basis of which is poorly understood. The E1064A mutation in the N-domain of ATP7B was previously shown to disrupt A...

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Bibliographic Details
Main Authors: Dmitriev, Oleg Y., Bhattacharjee, Ashima, Nokhrin, Sergiy, Uhlemann, Eva-Maria E., Lutsenko, Svetlana
Format: Artigo
Language:Inglês
Published: American Society for Biochemistry and Molecular Biology 2011
Subjects:
Molecular Bases of Disease
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3091241/
https://ncbi.nlm.nih.gov/pubmed/21398519
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M110.198101
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